Characterization of fusion genes and the significantly expressed fusion isoforms in breast cancer by hybrid sequencing

Nucleic Acids Res. 2015 Oct 15;43(18):e116. doi: 10.1093/nar/gkv562. Epub 2015 Jun 3.

Abstract

We developed an innovative hybrid sequencing approach, IDP-fusion, to detect fusion genes, determine fusion sites and identify and quantify fusion isoforms. IDP-fusion is the first method to study gene fusion events by integrating Third Generation Sequencing long reads and Second Generation Sequencing short reads. We applied IDP-fusion to PacBio data and Illumina data from the MCF-7 breast cancer cells. Compared with the existing tools, IDP-fusion detects fusion genes at higher precision and a very low false positive rate. The results show that IDP-fusion will be useful for unraveling the complexity of multiple fusion splices and fusion isoforms within tumorigenesis-relevant fusion genes.

Publication types

  • Evaluation Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Breast Neoplasms / genetics
  • Breast Neoplasms / metabolism
  • Carcinogenesis / genetics*
  • Female
  • Gene Expression Profiling*
  • Gene Fusion*
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • MCF-7 Cells
  • Protein Isoforms / genetics
  • Protein Isoforms / metabolism
  • Sequence Alignment

Substances

  • Protein Isoforms

Associated data

  • BioProject/PRJNA277461